Mondo Disease Ontology

Last uploaded: May 9, 2024

Preferred Name	laminopathy
Synonyms
Definitions	A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.
ID	http://purl.obolibrary.org/obo/MONDO_0021106
database_cross_reference	GARD:19444 MESH:D000083083 UMLS:C5392094 Orphanet:98301
definition	A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.
disease has basis in dysfunction of	http://purl.obolibrary.org/obo/GO_0005652
exactMatch	http://purl.obolibrary.org/obo/Orphanet_98301 http://linkedlifedata.com/resource/umls/id/C5392094 http://identifiers.org/mesh/D000083083
id	MONDO:0021106
in_subset	http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders
label	laminopathy
notation	MONDO:0021106
prefLabel	laminopathy
treeView	http://purl.obolibrary.org/obo/MONDO_0000001 http://purl.obolibrary.org/obo/MONDO_0003847
subClassOf	http://purl.obolibrary.org/obo/MONDO_0000001 http://purl.obolibrary.org/obo/MONDO_0003847

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0021106	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0021106	OBA	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0021106	DOVES	SAME_URI
http://www.limics.org/hrdo/rdfns#pat_id_13318	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_98301	ORDO	LOOM
rgo:29958	GAMUTS	LOOM
http://purl.obolibrary.org/obo/MONDO_0021106	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0021106	OBA	LOOM
http://purl.jp/bio/4/id/200906070855184782	IOBC	LOOM
http://www.orpha.net/ORDO/Orphanet_98301	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0021106	DOVES	LOOM